A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552763



Internal ID15993486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..409815hg38UCSC Ensembl
Innerchr11:198510..409815hg19UCSC Ensembl
Innerchr11:188510..399815hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38211306
hg19211306
hg18211306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1505n54
Supporting Variantsnssv763046
Samples
Known GenesATHL1, B4GALNT4, BET1L, IFITM1, IFITM2, IFITM3, IFITM5, MIR6743, NLRP6, ODF3, PKP3, PSMD13, RIC8A, SIGIRR, SIRT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552763
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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